scholarly journals Inherited Bleeding Disorders in Iraq and Consanguineous Marriage

2018 ◽  
Author(s):  
Nidal Karim Al-Rahal
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Consanguineous Marriage ◽  
Von Willebrand Disease ◽  
Clotting Factor ◽  
Bleeding Disorders ◽  
Clotting Factors ◽  
Female Ratio ◽  
Increased Risk ◽  
Von Willebrand

Background: Consanguineous marriage is defined as inbreeding between second cousins or closer. In such families there will be a potential increase in the autosomal recessive traits with its lethal effect, with an increased risk of morbidity and mortality in the new generation.  Inherited bleeding disorders (InBDs) are rare complicated diseases, difficult and expensive to treat, the defect usually due to quantitative or qualitative deficiency of clotting factors, platelets or fibrinolysis. This study attempts to assess the diversity, the frequency and the clinical features of inherited bleeding disorders (InBDs) in central part of Iraq and to determine the state of consanguineous marriage. Materials and Methods: This is a prospective cross-sectional study conducted in the National Center of Hematology NCH, Baghdad, Iraq between June2014 and June 2017. In total, 256 pediatrics and adult patients were included. Full bleeding history, family history, drug history and consanguineous marriage were recorded and followed by medical examination.  First-line laboratory tests were performed and then were followed by further tests included mixing study, lupus anticoagulant testing, clotting factor activity assay, von Willebrand Antigen (VW: Ag), Ristocetin co factor vWF: RiCoF activity and platelet function test. Results: The range of age was from 1 month to 57 years, with mean age 8.424±8.623 years and median age of 6.5years. The male to female ratio was 1.1:1. The most common age group was in the range of 1-10 years (46.45%). Family history was positive in 55.07% of patients (P >0.05). The consanguinity was found in 76.95% of the families studied (P <0.0001).  The most prevalent InBD was von Willebrand disease (42.98%) with majority type 3VWD (86.4%). The second most prevalent was thrombasthenia (36.71%) and the majority had Glanzmann’s thrombosthenia (86.2%). Rare bleeding disorders (RBDs) were observed in 6.25% of patients and the most common factor deficiency was FVII.  Conclusion: Consanguinity is high in patients with inherited bleeding disorders in Iraq, leading to emergence of life-threatening autosomal recessive inherited diseases. Genetic counselling is recommended besides education and awareness to minimize such rare illnesses in the community.

scholarly journals Ligature of external carotid artery as an optional technique in a patient with von Willebrand disease

2011 ◽  
Vol 22 (5) ◽  
pp. 435-438 ◽  
Author(s):  
Leonardo Perez Faverani ◽  
Ellen Cristina Gaetti-Jardim ◽  
Gabriel Ramalho-Ferreira ◽  
Jessica Lemos Gulinelli ◽  
Thallita Pereira Queiroz ◽  
...  
Keyword(s):  
Family History ◽  
Carotid Artery ◽  
External Carotid Artery ◽  
Von Willebrand Disease ◽  
External Carotid ◽  
Bleeding Disorders ◽  
Clotting Factors ◽  
History Of ◽  
Von Willebrand ◽  
Mucocutaneous Bleeding

The von Willebrand disease (vWD) is a hereditary coagulopathy. There is no gender predilection. Clinically characterized by mucocutaneous bleeding, especially nose bleeding, menorrhagia and bleeding after trauma. This article reports a case of a 52-year-old Caucasian male patient with vWD, who presented with extensive bleeding in the tongue after a lacerating injury caused by accidental biting, and describes some clinical, pathological and treatment aspects of vWD. After repeated attempts to suture the wound and replace clotting factors, a decision was made to perform the ligature of the external carotid artery ipsilateral to the injury. There was favorable resolution of the case, with a good aspect of the scar 2 months after ligation. This case reinforces that it is extremely important to make a thorough review of medical history of all patients, searching for possible bleeding disorders or previous family history.

The Most Prominent Hemophilia Clotting Factors in the Province of Nineveh

2021 ◽  
pp. 85-91
Author(s):  
Salih khudhair Abdullah ◽  
Asmaa Mohammed Khaleel ◽  
Khalid Satam Sultan
Keyword(s):  
Von Willebrand Disease ◽  
Clotting Factor ◽  
Recessive Mutation ◽  
Clotting Factors ◽  
Ibn Sina ◽  
Genetic History ◽  
Study Results ◽  
Different Types ◽  
Von Willebrand

Background: Hemophilia is a recessive mutation in X-linked chromosome. Hemophilia A is characterized by a deficiency of clotting factor F-VIII. Hemophilia B is characterized by a deficiency of clotting factor F-IX. Fibrin Stabilizer is a deficiency of F-XIII. Alexander's disease is a deficiency of clotting factor F-VII. Von Willebrand disease is a deficiency of clotting factor VWF. Afibrinogenemia is a deficiency of clotting factor F-I. Aim: This study amid to find out prevalence of deficiency clotting factors in Nineveh province. Methods: This research was conducted at Ibn-Sina Teaching Hospital. Staco special kits were used to determine factors under the study. Results: 365 out of 829 total patients have been detected deficiency in one or more of different types of factors. The most prevalence of deficiency factors in Nineveh are F-VIII, FIX and VWF. Infected males are more than females. The ages between 1-20 years and blood groups (A⁺, B⁺, and O⁺) are most prevalent. Conclusions: It is necessary to monitor patients during the initial disease, follow it up, and use effective treatment methods to limit the increased number of cases. Moreover, it is necessary to follow up on the family's genetic history to avoid new infections.

Autosomal Recessive Inherited Bleeding Disorders in Pakistan, a Cross Sectional Study from Selected Regions

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4708-4708
Author(s):  
Arshi Naz ◽  
Mohammad younus Jamal ◽  
Samina Tufail Amanat ◽  
Humayun Patel ◽  
Akbar Agha ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cross Sectional Study ◽  
Factor V ◽  
Bleeding Disorders ◽  
Clotting Factors ◽  
Cross Sectional ◽  
Glanzmann Thrombasthenia ◽  
Type 3 ◽  
Von Willebrand ◽  
Willebrand Factor

Abstract INTRODUCTION: Incidence of autosomal recessive disorders is rare, includes deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand disease type 3, Glanzmann Thrombasthenia and Bernard Soulier syndrome. OBJECTIVE: Spectrum of autosomal recessive bleeding disorders (ARBDs] among Pakistani patients. PATIENTS AND METHODS: This cross-sectional study was carried out at Karachi, Lahore, Islamabad and Peshawar. PT,aPTT, BT, and fibrinogen levels done. Patients with prolonged APTT were tested for factors VIII and IX. If FVIII was low, von Willebrand factor: antigen (vWF: Ag) and von Willebrand factor: ristocetin cofactor (vWF: RCo) were performed. When PT and aPTT both were prolonged, FII, FV, and FX were tested. Peripheral film and platelet aggregation studies were done for platelet disorders. Urea clot solubility test was done at the end. RESULTS: Out of429 patients, 148 were diagnosed with Hemophilia A, remaining 281 patients had ARBDs. 95 (33.8%) had VWD type 3. Fibrinogen deficiency was found in 34 (12%), Glanzmann Thrombasthenia in 27 (9.6%), factor XIII in 13 (4.6%), factor VII in 12 (4.3%), factor V in 9 (3.2%), 8 (2.8%) in vitamin K dependent clotting factors, , Bernard Soulier in 7 patient (2.5%),factor X in 2 (0.7%), factor II in 2 (0.7%), factor XI and combined factor V and VIII in 1 (0.4%)patients each. 70 patients (16.3%) remained undiagnosed. CONCLUSION: VWD type 3 is the most common deficiency followed by fibrinogen deficiency. Glanzmann thrombasthenia was the third most common ARBD. Disclosures No relevant conflicts of interest to declare.

scholarly journals How I manage pregnancy in carriers of hemophilia and patients with von Willebrand disease

Blood ◽  
2020 ◽  
Vol 136 (19) ◽  
pp. 2143-2150
Author(s):  
Frank W. G. Leebeek ◽  
Johannes Duvekot ◽  
Marieke J. H. A. Kruip
Keyword(s):  
Treatment Plan ◽  
Coagulation Factor ◽  
Diagnostic Procedures ◽  
Von Willebrand Disease ◽  
Bleeding Disorders ◽  
Prenatal Diagnostic ◽  
Increased Risk ◽  
Pregnancy And Delivery ◽  
Optimal Approach ◽  
Von Willebrand

Abstract Women with inherited bleeding disorders, including carriers of hemophilia A and B, or with von Willebrand disease, have an increased risk of bleeding during pregnancy and delivery. The unborn child may also be affected by the bleeding disorder for which specific measures have to be considered. This requires a multidisciplinary approach, with a team that includes a hematologist, a pediatric hematologist, a clinical geneticist, an obstetrician-perinatologist, and an anesthesiologist. An optimal approach includes prepregnancy genetic counseling, prenatal diagnostic procedures, and a treatment plan for delivery for both the mother and child. Recent retrospective studies show that even if strict guidelines are followed, these women are still at risk of postpartum bleeding. This occurs even if coagulation factor levels are normalized, either due to the pregnancy-induced rise of factor levels or by infusion of coagulation factor concentrates at the time of delivery. In this article, we describe our current diagnostic and clinical management of pregnancy and delivery in women with inherited bleeding disorders. We also briefly discuss possible interventions to improve the outcome of current strategies by increasing target factor levels during and after delivery.

scholarly journals Catheter Ablation for Atrial Fibrillation in Patients with Hemophilia or von Willebrand Disease

TH Open ◽  
2019 ◽  
Vol 03 (04) ◽  
pp. e335-e339
Author(s):  
Paul R. van der Valk ◽  
Eveline P. Mauser-Bunschoten ◽  
Jeroen F. van der Heijden ◽  
Roger E. G. Schutgens
Keyword(s):  
Atrial Fibrillation ◽  
Catheter Ablation ◽  
Early Mobilization ◽  
Von Willebrand Disease ◽  
Treatment Center ◽  
Clotting Factor ◽  
Low Molecular Weight ◽  
Bleeding Disorders ◽  
Von Willebrand

Abstract Background Management of atrial fibrillation (AF) is complex in patients with bleeding disorders. Catheter ablation such as pulmonary vein isolation (PVI) has been suggested in cases with bleeding disorders. However, data on safety are missing. This report describes the outcome of PVI in patients with bleeding disorders. Methods A retrospective study in our hemophilia treatment center of patients who underwent a PVI in 2014 to 2018. PVI was done according to local protocol. Clotting factor was given periprocedural. Postprocedural anticoagulation was given for at least 4 weeks, with clotting factor suppletion if needed to maintain factor VIII (FVIII) levels >0.20 IU/mL. Results and Discussion Five patients with hemophilia and one with von Willebrand disease were included. Eight PVIs were performed. Target FVIII levels (>0.80 IU/mL) were met before the procedure. Postprocedural anticoagulation was given: vitamin K antagonist (VKA) or direct oral anticoagulant (DOAC) dabigatran. All patients obtained long-term sinus rhythm, in two patients after a second PVI. However, late recurrent AF occurred in one patient after 42 months. A notable incidence of groin bleeds was observed: two of eight interventions (25%) compared with 0.9% in the general population. Bleeding seemed to be related to agitation, early mobilization, and bridging of VKA with low molecular weight heparin (LMWH). No relevant bleeding was observed when on DOAC therapy. Conclusion PVI seems to be effective in the case of bleeding disorders. To reduce the groin bleeds agitation and early mobilization should be avoided and DOAC is preferred over bridging VKA with LMWH.

scholarly journals Von Willebrand factor

2019 ◽  
Vol 10 (4) ◽  
pp. 73-80 ◽  
Author(s):  
Yekaterina V. Chernova
Keyword(s):  
Von Willebrand Factor ◽  
Von Willebrand Disease ◽  
Clotting Factor ◽  
Clotting Factors ◽  
Damage Site ◽  
System Disease ◽  
Endothelium Damage ◽  
Von Willebrand ◽  
Willebrand Factor

Von Willebrand factor is a multimeric glycoprotein which appears to be one of the most important clotting factors providing an implementation of bleeding stop mechanism. This hemostatic protein represents a poly-functional molecule which performs its physiologic functions by taking an active part in initiation of platelets adhesion in the area of vessel endothelium damage. Moreover, von Willebrand factor bonds with collagen which is exposed when a vessel wall is damaged. Another important feature of von Willebrand factor is co-factor activity related to clotting factor VIII, manifesting in stabilization of the latter, providing its physiological clearance and its delivery to the vessel endothelium damage site. Genetically determined quantitative or qualitative von Willebrand factor deficiency leads to development of the most frequent hemostasis system disease — von Willebrand disease. The unique feature of von Willebrand factor is a waveform pattern of its functional activity. Von Willebrand factor may also appear as a ligand for large platelet integrin αIIbβ3 (GPIIb/IIIa). The role of von Willebrand factor in angiogenesis process is currently actively studied. It was shown that absence of von Willebrand factor promotes processes of angiogenesis which is manifested in significant increase of proliferation rate of endothelium cells in vitro.

scholarly journals Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing

Life ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 202
Author(s):  
Réka Gindele ◽  
Adrienne Kerényi ◽  
Judit Kállai ◽  
György Pfliegler ◽  
Ágota Schlammadinger ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Von Willebrand Disease ◽  
Differential Diagnostics ◽  
Bleeding Disorders ◽  
Next Generation ◽  
Illumina Platform ◽  
Clinical Patient ◽  
Von Willebrand ◽  
Generation Sequencing

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecular genetic investigations by summarizing the diagnostic work on cases with certain bleeding disorders. Here we report only those, in whom NGS was indicated due to uncertainty of diagnosis or if genetic confirmation of initial diagnosis was required. Based on clinical and/or laboratory suspicion of von Willebrand disease (vWD, n = 63), hypo-or dysfibrinogenemia (n = 27), hereditary hemorrhagic telangiectasia (HHT, n = 10) and unexplained activated partial thromboplastin time (APTT) prolongation (n = 1), NGS using Illumina platform was performed. Gene panel covered 14 genes (ACVRL1, ENG, MADH4, GDF2, RASA1, F5, F8, FGA, FGB, FGG, KLKB1, ADAMTS13, GP1BA and VWF) selected on the basis of laboratory results. We identified forty-seven mutations, n = 29 (6 novel) in vWD, n = 4 mutations leading to hemophilia A, n = 10 (2 novel) in fibrinogen disorders, n = 2 novel mutations in HHT phenotype and two mutations (1 novel) leading to prekallikrein deficiency. By reporting well-characterized cases using standardized, advanced laboratory methods we add new pieces of data to the continuously developing “bleeding disorders databases”, which are excellent supports for clinical patient management.

Coagulopathies

2020 ◽  
Author(s):  
Michael Levine
Keyword(s):  
Key Words ◽  
Bleeding Disorder ◽  
Von Willebrand Disease ◽  
Coagulation Cascade ◽  
Bleeding Disorders ◽  
Platelet Disorders ◽  
Von Willebrand

Coagulopathy can be caused by numerous hereditary or acquired etiologies. Although some of these conditions are known and the patient is aware of the bleeding disorder, other bleeding disorders are diagnosed only after the onset of excessive hemorrhage. This review discusses both hereditary and acquired disorders of coagulopathy. Platelet disorders are discussed elsewhere. This review contains 2 figures, 7 tables, and 72 references. Key words: Coagulopathies; Coagulopathy; Bleeding disorder; Hereditary bleeding disorder; Acquired bleeding disorder; von Willebrand disease; Hemophilia; Coagulation cascade; Hemorrhage; Anticoagulant-associated hemorrhage

scholarly journals Coagulation Disturbances in Patients with Argininemia

2018 ◽  
Vol 140 (4) ◽  
pp. 221-225 ◽  
Author(s):  
Ertugrul Kiykim ◽  
Tanyel Zubarioglu ◽  
Mehmet Serif Cansever ◽  
Tiraje Celkan ◽  
Johannes Häberle ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Urea Cycle ◽  
International Normalized Ratio ◽  
Factor Ix ◽  
Factor Vii ◽  
Clotting Factor ◽  
Clotting Factors ◽  
Hepatic Involvement ◽  
Prolonged Aptt ◽  
Liver Transaminases

Background: Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. Methods: In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. Results: All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. Conclusions: Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms.

Major haemorrhage related to surgery in patients with type 1 and possible type 1 von Willebrand disease

2008 ◽  
Vol 100 (05) ◽  
pp. 797-802 ◽  
Author(s):  
Alicia Blanco ◽  
Roberto Chuit ◽  
Susana Meschengieser ◽  
Ana Kempfer ◽  
Cristina Farías ◽  
...  
Keyword(s):  
Family History ◽  
Surgical Procedures ◽  
Tooth Extraction ◽  
Positive Family History ◽  
Major Haemorrhage ◽  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Laboratory Test Results ◽  
Von Willebrand

SummaryPatients with von Willebrand disease (VWD) frequently bleed under a challenge. The aim of our study was to identify predictive markers of perioperative major haemorrhage in type 1 (VWF:RCo = 15–30 IU dl-1) and possible type 1 (VWF:RCo = 31–49 IU dl-1)VWD patients. We recorded perioperative bleeding complications previous to diagnosis and laboratory parameters in 311 patients with 498 surgical procedures. The patients were grouped according to the absence (A) or presence (B) of perioperative major haemorrhages. Eighty-one patients (26%) and 87 surgical procedures (17.5%) presented major haemorrhages associated with surgeries. There was no difference between the percentage of type 1 and possible type 1 VWD patients who had major haemorrhages (32.6% and 24.8% respectively; p=ns). No difference in the prevalence of O blood group, age, gender, positive family history and laboratory test results (FVIII and VWF) was observed, independent of the haemorrhagic tendency. Bleeding after tooth extraction was the most frequent clinical feature observed in patients with perioperative major haemorrhages. The bleeding score and the number of bleeding sites (≥3) were not predictors of major haemorrhage associated with surgery. Caesarean section and adenotonsillectomy showed the highest frequency of major haemorrhages (24.6% and 22.3%, respectively). In conclusion, type 1 and possible type 1VWD patients showed similar incidence of perioperative major haemorrhages. Laboratory tests and positive family history did not prove to be effective at predicting major haemorrhages in patients that had either type 1 or possible type 1 VWD. The history of bleeding after tooth extraction could define risk factors of major haemorrhage.

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